Varaico: Literature-Extracted Genetic Variants

Gene:TGM5
Variant:p.L214delFs
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TGM5

NM_201631.4:p.L214delFs

Associated Papers

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

Thangaraju K et al.

Plos One, 2017

28248968 (PubMed )
Supplement: pone.0172189.s003.pdf

Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

Kopečková L et al.

The British Journal of Dermatology, 2016

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

Pigors M et al.

The Journal of Investigative Dermatology, 2012

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